Mitochondria Phenome Knowledgebase

Phenotypic Feature Muscle-hypotonia finds 95 Gene-Feature associations that are associated with 95 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Muscle-hypotonia hypotonia neurologic 6148708 9746906 10407778
ACADL 201460 Muscle-hypotonia neurologic 4022672 8739959
ACADM 201450 Muscle-hypotonia hypotonic; muscle tone decreased neurologic 2279505 9158144 15858970
ACADS 201470 Muscle-hypotonia hypotonic; axial hypotonia neurologic 3335634 7776094 9578969 9932958 11134486 14595061 15534767
ACADSB 610006 Muscle-hypotonia floppy; hypotonic neurologic 10832746 11013134 12837870 16317551
ACADVL 201475 Muscle-hypotonia neurologic 7479827 9709714 9877038 11433098
ACAT1 203750 Muscle-hypotonia muscle hypotonus; generalized hypotonia neurologic 1349518 7173255 11161836
ACSL4 300387 Muscle-hypotonia hypotonia; neonatal hypotonia; infancy hypotonia neurologic 11889465
ALDH18A1 138250 Muscle-hypotonia severe hypotonia neurologic 11092761 15517380
ALDH5A1 271980 Muscle-hypotonia no weakness; nonparalytic hypotonia; hypotonic neurologic 9093300 9266358 9683595 10234622 11901270 12743223 15059623 15287248
AMT 605899 Muscle-hypotonia hypotonia neurologic 8005589 9621520 12948742 15236413 16450403
ATPAF2 604273 Muscle-hypotonia progressive neurologic 14757859
AUH 250950 Muscle-hypotonia neurologic 9762598 10896289
BCKDHA 248600 Muscle-hypotonia profound hypotonia; myopathic facies neurologic 7883996 16601891
BCS1L 124000 Muscle-hypotonia axial hypotonia neurologic 11528392 12910490
BCS1L 603358 Muscle-hypotonia neurologic 7577396 12215968
CLN3 204200 Muscle-hypotonia slight; severe head lag neurologic 7553855 15032383
COX10 220110 Muscle-hypotonia trunkal hypotonia neurologic 2834526 10767350 12928484 15455402
COX15 220110 Muscle-hypotonia axial hypotonia neurologic 12474143 15235026 15863660
CPOX 121300 Muscle-hypotonia neurologic 11739202
CPS1 237300 Muscle-hypotonia trunkal hypotonia; hypotonic neurologic 11301219 12955727 15617192
CPT1A 255120 Muscle-hypotonia neurologic 9691089
CPT2 600649 Muscle-hypotonia muscular hypotonia; generalized neurologic 11389301 11477613 12560872
CYP27B1 264700 Muscle-hypotonia neurologic 9486994 9837822 12050193
DGUOK 251880 Muscle-hypotonia neurologic 12205643 12210798 15639197 15883261 15887277 15964659 16263314
DLAT 245348 Muscle-hypotonia floppy; generalized neurologic 16049940
DLD 248600 Muscle-hypotonia truncal hypotonia neurologic 3769994 6897145 8506365 8968745 9934985 10448086 11687750 12925875 15712224
DLST 203740 Muscle-hypotonia axial hypotonia; truncal hypotonia; head control loss neurologic 1640293 8295396
DMPK 160900 Muscle-hypotonia congenital; marked hypotonia; generalized hypotonia neurologic 9521960 10323316 10690232 11407162 11424841 11455309 11807903 14521021 15770660
ETFA 231680 Muscle-hypotonia muscular hypotonia; severe neurologic 12486872 12815589 16510302
ETFB 231680 Muscle-hypotonia muscular hypotonia neurologic 12706375 12815589
ETFDH 231680 Muscle-hypotonia muscular hypotonia neurologic 10356148 12815589 15662686 15669683
ETHE1 602473 Muscle-hypotonia neurologic 1683940
FH 606812 Muscle-hypotonia muscular hypotonia; trunk hypotonia; congenital hypotonia neurologic 1432428 8200987 9635293 15221078 16151915 16156009
FXN 229300 Muscle-hypotonia muscle tone reduced; muscle tone in both the trunk and limbs reduced neurologic 12112211
GATM 602360 Muscle-hypotonia neurologic 12468279
GCDH 231670 Muscle-hypotonia axial hypotonia; head control loss neurologic 7564239 10407775 10960496 11174631 11825066 12888985 16377226
GCSH 605899 Muscle-hypotonia neurologic 1671321
GDAP1 214400 Muscle-hypotonia generalized; legs neurologic 12499475 12707075
GDAP1 607706 Muscle-hypotonia floppy infant neurologic 12821518 15805163
GDAP1 608340 Muscle-hypotonia neurologic 12566285
GK 307030 Muscle-hypotonia axial hypotonia; hypotonia neurologic 9719371 11032329 11479736
GLDC 605899 Muscle-hypotonia neurologic 15236413 15824356 15851735 15864413 16450403
GLUD1 606762 Muscle-hypotonia neurologic 8769351 9108870
HADH 231530 Muscle-hypotonia floppiness; poor head control neurologic 10347277 14693719
HADHA 609015 Muscle-hypotonia neurologic 7738175 8865274 14630990
HADHA 609016 Muscle-hypotonia axial hypotonia; floppiness; hypotonia neurologic 8094173 8736409 9003853 9403664 10352164 12162610 14605499
HADHB 609015 Muscle-hypotonia muscular hypotonia neurologic 12548384 16423905
HD 143100 Muscle-hypotonia mild; early phase neurologic 9443350 12075490
HLCS 253270 Muscle-hypotonia hypotonia; hypotonic neurologic 2515377 8541348 9686819 10190325 12124727 12633764 12855220 16134170
HMGCL 246450 Muscle-hypotonia neurologic 9439591 11129331 11461194
HSD17B10 300438 Muscle-hypotonia pronounced; lack of head control neurologic 11102558 12112118 14729408 16148061
LRPPRC 220111 Muscle-hypotonia myopathic facial expression; unexpressive facies neurologic 8392290 8392291 11156535 16143014
MCCC1 210200 Muscle-hypotonia hypotonia neurologic 11181649 11893004
MCCC2 210210 Muscle-hypotonia trunk hypotonia; head control reduces neurologic 1293382 9537490 11181649 15877210
MLYCD 248360 Muscle-hypotonia generalized neurologic 7609455 9869665 11550227 12955715
MMAA 251100 Muscle-hypotonia neurologic 6132336 15781192
MMAB 251110 Muscle-hypotonia neurologic 6132336 16410054
MPV17 256810 Muscle-hypotonia hypotonia neurologic 10518083 11431741
MRPS16 609204 Muscle-hypotonia generalized neurologic 15505824
MTRR 236270 Muscle-hypotonia neurologic 12555939 15714522
MUT 251000 Muscle-hypotonia neurologic 10923046 16186538 16281286 16451139
NAGS 237310 Muscle-hypotonia episodes; hypotonia; truncal hypotonia neurologic 7623444 9877039 12754705 15878741 16126063
NDUFA12L 252010 Muscle-hypotonia neurologic 16200211
NDUFS1 252010 Muscle-hypotonia floppiness; generalized hypotonia; axial hypotonia neurologic 11349233 15576045 15824269
NDUFS2 252010 Muscle-hypotonia neurologic 11220739
NDUFS4 252010 Muscle-hypotonia floppiness neurologic 9463323 10944442 11181577 12616398 14765537
NDUFS6 252010 Muscle-hypotonia neurologic 15372108
NDUFS7 252010 Muscle-hypotonia neurologic 1770777 10360771
NDUFS8 252010 Muscle-hypotonia neurologic 9837812 15981016
NDUFV1 252010 Muscle-hypotonia progressive; floppiness; hypotonia neurologic 10080174 11349233
NDUFV2 252010 Muscle-hypotonia trunkal hypotonia neurologic 12754703
OGDH 203740 Muscle-hypotonia neurologic 1640293
OPA3 258501 Muscle-hypotonia mild neurologic 12126933
OTC 311250 Muscle-hypotonia neurologic 10885542
OXCT1 245050 Muscle-hypotonia neurologic 7474899 9392403
PC 266150 Muscle-hypotonia generalized hypotonia; axial hypotonia neurologic 7503391 9585612 15781190 16278852 16325442
PCCA 606054 Muscle-hypotonia axial hypotonia; muscular hypotonia neurologic 7957390 10502773 10780784 12559849 15464417
PCCB 606054 Muscle-hypotonia axial hypotonia; head control loss neurologic 7957390 9461363 10488817 10502773 10780784 10910839 12409268 12559849 15464417
PDHA1 308930 Muscle-hypotonia neurologic 1641082 8498846 8982956 9187674 9266390
PDHA1 312170 Muscle-hypotonia head control loss; head lag; central hypotonia; floppy; generalized hypotonia; axial hypotonia neurologic 9686362 12163191 12379317 14635113 15558317 16256390 16412675 16552546
PDHB 179060 Muscle-hypotonia neurologic 15138885
PDHX 245349 Muscle-hypotonia severe; head lag; unable to sit neurologic 8584393 12557299 15303005
PEO1 271245 Muscle-hypotonia neurologic 8133312 8159181 8552218 9879682 16135556
POLG 203700 Muscle-hypotonia neurologic 15689359
RMRP 607095 Muscle-hypotonia neurologic 11370632
SCO1 220110 Muscle-hypotonia neurologic 11013136
SCO2 604377 Muscle-hypotonia hypotonia neurologic 10545952 10749987 10805329 11673586 12020273 14994243 15210538 15499950 16326995
SDHA 252011 Muscle-hypotonia neurologic 12794685 16361598
SLC19A2 249270 Muscle-hypotonia mild hypotonia neurologic 14627317
SLC25A15 238970 Muscle-hypotonia truncal hypotonia neurologic 9329423
SLC25A19 607196 Muscle-hypotonia decreased fetal movements neurologic 12185364 12376931
SLC25A20 212138 Muscle-hypotonia decreased tone; poor head control; poor trunk control; head lag neurologic 10408757 10876004 11350184 12801121 15159657 15365988
SLC25A22 609304 Muscle-hypotonia neurologic 15592994
STAR 201710 Muscle-hypotonia hypotonic neurologic 16118340
SUCLA2 609560 Muscle-hypotonia generalized; marked neurologic 15877282
SUOX 272300 Muscle-hypotonia in infancy; floppiness; hypotonic; poor head control neurologic 9600976 12368985 15952210 16140720
SURF1 220110 Muscle-hypotonia hypotonic neurologic 9837813 10746561 11955926 15214016 16222681 16225813 16326995
TAZ 302060 Muscle-hypotonia neurologic 14654353
TK2 609560 Muscle-hypotonia loss of head control; floppy; diffusely hypotonic; generalized; extreme hypotonia neurologic 11687801 12269728 12655576 12682338 12873860 15907288 16504786

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